CADASIL in Arabs: clinical and genetic findings.

abstract：BACKGROUND:Genetic susceptibility plays a key role in the development of nasopharyngeal carcinoma (NPC) and in fact the disease presents with an unusually high incidence in certain regions of the world like North Africa. We investigated the association between polymorphism of the Transforming growth factor-β1 (TGF-β1) ...

journal_title：BMC medical genetics

authors： Khaali W,Moumad K,Ben Driss EK,Benider A,Ben Ayoub W,Hamdi-Cherif M,Boualga K,Hassen E,Corbex M,Khyatti M

更新日期：2016-10-12 00:00:00

abstract：BACKGROUND:Catechol-O-methyltransferase (COMT Val158Met) has been implicated in both depression and cardiovascular disease. The purpose of this study was to assess if COMT Val158Met, which influences the COMT enzyme activity, has an effect on the risk of cardiovascular disease (CVD) in individuals with a history of dep...

journal_title：BMC medical genetics

authors： Almas A,Forsell Y,Millischer V,Möller J,Lavebratt C

更新日期：2018-07-25 00:00:00

abstract：BACKGROUND:Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutations in the ANTXR2 gene have b...

journal_title：BMC medical genetics

authors： Youssefian L,Vahidnezhad H,Touati A,Ziaee V,Saeidian AH,Pajouhanfar S,Zeinali S,Uitto J

更新日期：2018-05-25 00:00:00

abstract：BACKGROUND:Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK terminology: learning disability). These studies focused on subjects (largely children) with various sev...

journal_title：BMC medical genetics

authors： Pickard BS,Hollox EJ,Malloy MP,Porteous DJ,Blackwood DH,Armour JA,Muir WJ

更新日期：2004-08-13 00:00:00

abstract：BACKGROUND:Hemoglobin A1c (HbA1c) levels diagnose diabetes, predict mortality and are associated with ten single nucleotide polymorphisms (SNPs) in white individuals. Genetic associations in other race groups are not known. We tested the hypotheses that there is race-ethnic variation in 1) HbA1c-associated risk allele ...

journal_title：BMC medical genetics

authors： Grimsby JL,Porneala BC,Vassy JL,Yang Q,Florez JC,Dupuis J,Liu T,Yesupriya A,Chang MH,Ned RM,Dowling NF,Khoury MJ,Meigs JB,MAGIC Investigators.

更新日期：2012-04-27 00:00:00

abstract：BACKGROUND:Variants in the FTO gene have been associated with obesity in children, but this association has not been shown with other biomarkers. We assessed the association of 52 FTO polymorphisms, spanning the whole gene, with obesity and estimated the influence of these polymorphisms on anthropometric, clinical and ...

journal_title：BMC medical genetics

authors： Olza J,Ruperez AI,Gil-Campos M,Leis R,Fernandez-Orth D,Tojo R,Cañete R,Gil A,Aguilera CM

更新日期：2013-12-01 00:00:00

abstract：BACKGROUND:Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital limb contractures and comprise at least 10 clinical subtypes. Here, we describe our findings in two Chinese families: Family 1 with DA2B (MIM 601680) and Family 2 with mild DA. METHOD...

journal_title：BMC medical genetics

authors： Li S,You Y,Gao J,Mao B,Cao Y,Zhao X,Zhang X

更新日期：2018-10-03 00:00:00

abstract：BACKGROUND:Congenital nephrogenic diabetes insipidus (NDI) is characterised by an inability to concentrate urine despite normal or elevated plasma levels of the antidiuretic hormone arginine vasopressin. We report a Japanese extended family with NDI caused by an 11.2-kb deletion that includes the entire AVPR2 locus and...

journal_title：BMC medical genetics

authors： Fujimoto M,Imai K,Hirata K,Kashiwagi R,Morinishi Y,Kitazawa K,Sasaki S,Arinami T,Nonoyama S,Noguchi E

更新日期：2008-05-20 00:00:00

abstract：BACKGROUND:Rs189037 (G > A) is a functional single nucleotide polymorphism (SNP) in the Ataxia-telangiectasia mutated (ATM) gene that may be associated with the risk of cancer. We performed a meta-analysis to determine whether rs189037 polymorphism influences the occurrence of cancer and examined the relationship betwe...

journal_title：BMC medical genetics

authors： Zhao ZL,Xia L,Zhao C,Yao J

更新日期：2019-02-01 00:00:00

abstract：:The Framingham Heart Study, founded in 1948 to examine the epidemiology of cardiovascular disease in a small town outside of Boston, has become the worldwide standard for cardiovascular epidemiology. It is among the longest running, most comprehensively characterized multi-generational studies in the world. Such semin...

journal_title：BMC medical genetics

authors： Jaquish CE

更新日期：2007-10-04 00:00:00

abstract：BACKGROUND:Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION:A Chinese family with two offspring-patients affected by developmental delay and intellectual...

journal_title：BMC medical genetics

authors： Zhao S,Luo Z,Xiao Z,Li L,Zhao R,Yang Y,Zhong Y

更新日期：2019-11-21 00:00:00

abstract：BACKGROUND:Congenital cataract is the leading cause of blindness in children worldwide. Approximately half of all congenital cataracts have a genetic basis. Protein aggregation is the single most important factor in cataract formation. METHODS:A four-generation Chinese family diagnosed with autosomal dominant congenit...

journal_title：BMC medical genetics

authors： Song Z,Si N,Xiao W

更新日期：2018-10-19 00:00:00

abstract：BACKGROUND:Mutation analysis of KIT and PDGFRA genes in gastrointestinal stromal tumors is gaining increasing importance for prognosis of GISTs and for prediction of treatment response. Several groups have identified specific mutational subtypes in KIT exon 11 associated with an increased risk of metastatic disease whe...

journal_title：BMC medical genetics

authors： Merkelbach-Bruse S,Dietmaier W,Füzesi L,Gaumann A,Haller F,Kitz J,Krohn A,Mechtersheimer G,Penzel R,Schildhaus HU,Schneider-Stock R,Simon R,Wardelmann E

更新日期：2010-07-04 00:00:00

abstract：BACKGROUND:Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family and confirm carrier status of the proband's daughter. METHODS:The proband had prim...

journal_title：BMC medical genetics

authors： Guarnieri V,Seaberg RM,Kelly C,Jean Davidson M,Raphael S,Shuen AY,Baorda F,Palumbo O,Scillitani A,Hendy GN,Cole DEC

更新日期：2017-08-03 00:00:00

abstract：BACKGROUND:Emerging evidence has shown that miRNAs are involved in human carcinogenesis as tumor suppressors or oncogenes. Single nucleotide polymorphisms (SNPs) located in pre-miRNAs may affect the processing and therefore, influence the expression of mature miRNAs. Previous studies generated conflicting results when ...

journal_title：BMC medical genetics

authors： Linhares JJ,Azevedo M Jr,Siufi AA,de Carvalho CV,Wolgien Mdel C,Noronha EC,Bonetti TC,da Silva ID

更新日期：2012-12-10 00:00:00

abstract：BACKGROUND:CHARGE syndrome is an autosomal dominant disorder, characterized by ocular Coloboma, congenital Heart defects, choanal Atresia, Retardation, Genital anomalies and Ear anomalies. Over 90 % of typical CHARGE patients are mutated in the CHD7 gene, 65 %-70 % of the cases for all typical and suspected cases combi...

journal_title：BMC medical genetics

authors： Pisaneschi E,Sirleto P,Lepri FR,Genovese S,Dentici ML,Petrocchi S,Angioni A,Digilio MC,Dallapiccola B

更新日期：2015-09-03 00:00:00

abstract：BACKGROUND:Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and band keratopathy. To date, almost all mutations have been found to be homozygous muta...

journal_title：BMC medical genetics

authors： Horita S,Simsek E,Simsek T,Yildirim N,Ishiura H,Nakamura M,Satoh N,Suzuki A,Tsukada H,Mizuno T,Seki G,Tsuji S,Nangaku M

更新日期：2018-06-18 00:00:00

abstract：BACKGROUND:Genome-wide association studies (GWAS) in White Europeans have shown that genetic variation rs10830963 in melatonin receptor 1B gene (MTNR1B) is associated with fasting glucose and type 2 diabetes, which has also been replicated in several Asian populations. As a variant in the gene involved in the regulatio...

journal_title：BMC medical genetics

authors： Liu C,Wu Y,Li H,Qi Q,Langenberg C,Loos RJ,Lin X

更新日期：2010-04-14 00:00:00

abstract：BACKGROUND:The results of meta-analyses conducted by previous association studies between total homocysteine and schizophrenia suggest that an elevated total homocysteine level is a risk factor for schizophrenia. However, observational studies have potential limitations, such as confounding and reverse causation. In th...

journal_title：BMC medical genetics

authors： Numata S,Kinoshita M,Tajima A,Nishi A,Imoto I,Ohmori T

更新日期：2015-07-26 00:00:00

abstract：BACKGROUND:This study aimed to assess the association between 14 single nucleotide polymorphisms (SNPs) in six genes (IRF8, TMEM39A, IKZF3, ORMDL3, GSDMB, and ZPBP2) and systemic lupus erythematosus (SLE) in a Chinese Han population sample. METHODS:We carried out a case-control study of 415 patients with SLE and 470 h...

journal_title：BMC medical genetics

authors： Cai X,Huang W,Liu X,Wang L,Jiang Y

更新日期：2017-04-20 00:00:00

abstract：BACKGROUND:L. braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. Wound healing neutrophil (PMN) and macrophage responses made following the bite of the vector sand fly contribute to disease progression in mice. To look at the interplay between PMN and macrophages in disease progression in humans we aske...

journal_title：BMC medical genetics

authors： Castellucci L,Jamieson SE,Miller EN,Menezes E,Oliveira J,Magalhães A,Guimarães LH,Lessa M,de Jesus AR,Carvalho EM,Blackwell JM

更新日期：2010-01-20 00:00:00

abstract：BACKGROUND:Epigenetics could facilitate greater understanding of disparities in the emergence of childhood obesity. While blood is a common tissue used in human epigenetic studies, saliva is a promising tissue. Our prior findings in non-obese preschool-aged Hispanic children identified 17 CpG dinucleotides for which di...

journal_title：BMC medical genetics

authors： Rushing A,Sommer EC,Zhao S,Po'e EK,Barkin SL

更新日期：2020-02-14 00:00:00

abstract：BACKGROUND:In X-linked dilated cardiomyopathy due to dystrophin mutations which abolish the expression of the M isoform (5'-XLDC), the skeletal muscle is spared through the up-regulation of the Brain (B) isoform, a compensatory mechanism that does not appear to occur in the heart of affected individuals. METHODS:We qu...

journal_title：BMC medical genetics

authors： Neri M,Valli E,Alfano G,Bovolenta M,Spitali P,Rapezzi C,Muntoni F,Banfi S,Perini G,Gualandi F,Ferlini A

更新日期：2012-03-28 00:00:00

abstract：BACKGROUND:Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primari...

journal_title：BMC medical genetics

authors： Mayeur H,Roche O,Vêtu C,Jaliffa C,Marchant D,Dollfus H,Bonneau D,Munier FL,Schorderet DF,Levin AV,Héon E,Sutherland J,Lacombe D,Said E,Mezer E,Kaplan J,Dufier JL,Marsac C,Menasche M,Abitbol M

更新日期：2006-04-28 00:00:00

abstract：BACKGROUND:The number of genome-wide association studies (GWAS) is growing rapidly leading to the discovery and replication of many new disease loci. Combining results from multiple GWAS datasets may potentially strengthen previous conclusions and suggest new disease loci, pathways or pleiotropic genes. However, no dat...

journal_title：BMC medical genetics

authors： Johnson AD,O'Donnell CJ

更新日期：2009-01-22 00:00:00

abstract：BACKGROUND:Six asthma candidate genes, ADAM33, NPSR1, PHF11, DPP10, HLA-G, and CYFIP2, located at different chromosome regions have been positionally cloned following the reported linkage studies. For ADAM33, NPSR1, and CYFIP2, the associations with asthma or asthma-related phenotypes have been studied in East Asian po...

journal_title：BMC medical genetics

authors： Zhou H,Hong X,Jiang S,Dong H,Xu X,Xu X

更新日期：2009-12-01 00:00:00

abstract：BACKGROUND:Many epidemiological studies have suggested that insulin-like growth factor1 (IGF1) gene single-nucleotide polymorphisms (SNPs) may be associated with cancer risk. Among several commonly studied polymorphisms in IGF1 gene, rs2195239 and rs2162679 attracted many attentions. So we perform a meta-analysis to de...

journal_title：BMC medical genetics

authors： Xu GP,Chen WX,Zhao Q,Zhou H,Chen SZ,Wu LF

更新日期：2019-01-17 00:00:00

abstract：BACKGROUND:Celiac disease has a strong genetic association with HLA. However, this association only explains approximately half of the sibling risk for celiac disease. Therefore, other genes must be involved in susceptibility to celiac disease. We tested for linkage to genes or loci that could play a role in pathogenes...

journal_title：BMC medical genetics

authors： Neuhausen SL,Feolo M,Farnham J,Book L,Zone JJ

更新日期：2001-01-01 00:00:00

abstract：BACKGROUND:Autoimmune diseases with elevated circulating autoantibodies drive tissue damage and the onset of disease. The Fcγ receptors bind IgG subtypes modulating the clearance of circulating immune complexes (CIC). The inner ear damage in Ménière's disease (MD) could be mediated by an immune response driven by CIC. ...

journal_title：BMC medical genetics

authors： Lopez-Escamez JA,Saenz-Lopez P,Gazquez I,Moreno A,Gonzalez-Oller C,Soto-Varela A,Santos S,Aran I,Perez-Garrigues H,Ibañez A,Lopez-Nevot MA

更新日期：2011-01-05 00:00:00

abstract：BACKGROUND:Asthma genetics has been extensively studied and many genes have been associated with the development or severity of this disease. In contrast, the genetic basis of allergic rhinitis (AR) has not been evaluated as extensively. It is well known that asthma is closely related with AR since a large proportion o...

journal_title：BMC medical genetics

authors： Andiappan AK,Nilsson D,Halldén C,Yun WD,Säll T,Cardell LO,Tim CF

更新日期：2013-05-10 00:00:00